Searchable abstracts of presentations at key conferences in endocrinology

ea0073mte15 | Meet The Expert 15: Challenges in genetic counseling for hereditary endocrine neoplasia syndromes | ECE2021

Challenges in genetic counseling for hereditary endocrine neoplasia syndromes

Karhu Auli

Genetic counseling has long been an integral component of the care of individuals and families with hereditary endocrine neoplasia syndromes. Molecular biology has made a great progress during the past years, and genetic testing and genetic counseling have received more and more public attention. The recent progress, especially in the next-generation sequencing (NGS) technology allows multiple genes or even the whole-genome to be sequenced with high resolution and speed. Nowad...

ea0041gp149 | Pituitary - Clinical | ECE2016

Impact of AIP and Gαi-2 proteins on clinical features of sporadic GH-secreting pituitary adenomas

Ritvonen Elina , Pitkanen Esa , Karppinen Atte , Vehkavaara Satu , Demir Hande , Paetau Anders , Schalin-Jantti Camilla , Karhu Auli

Introduction: In sporadic acromegaly, downregulation of AIP protein of the adenomas associates with invasive tumour features and reduced response to somatostatin analogue treatment. AIP is a regulator of Gαi signaling, but it is not known how the biological function of the Gαi pathway is controlled.Aim: To study somatic GNAS and AIP mutation status, AIP and Gαi-2 protein expressions, Ki67 proliferation indices, and clinical parameters in p...